If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
| pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
18
|
9
|
116
|
73
|
25
|
1
|
226
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
COG6
|
18
|
9
|
116
|
73
|
25
|
1
|
226
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
5
|
2
|
54
|
66
|
20
|
0 |
147
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
59
|
6
|
8
|
0 |
73
|
|
Baylor Genetics
|
1
|
0 |
6
|
0 |
0 |
0 |
7
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
1
|
4
|
0 |
0 |
6
|
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Mendelics
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Variantyx, Inc.
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
CENTOGENE GmbH and LLC - Guiding Precision Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Istanbul Faculty of Medicine, Istanbul University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratoire Génétique Moléculaire, CHRU TOURS
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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